My daughter’s lab values came back normal
She Feels
anything but
WHAT THE C@H?! is all about not settling for “good enough.” About acknowledging frustrations, but not being resigned to them. Join us as we explore the ins and outs of congenital adrenal hyperplasia (CAH) and continue building the community.
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CAH Essentials
CORTISOL
is a hormone produced by the body that plays a role in regulating key functions such as stress and metabolism.
ALDOSTERONE
is a hormone produced by the body. It helps regulate the levels of salt and water in your blood, thus impacting blood pressure.
androgens
are hormones produced by the body that play a role in regulating key functions such as growth, puberty, and reproductive health.
CAH is a rare, lifelong genetic condition involving the adrenal glands. It affects about 1 in 15,000 newborns worldwide per year.
The adrenals are pyramid-shaped glands that sit on top of your kidneys. They produce and —hormones that are critical to the body’s ability to function properly.
Cortisol manages the body’s stress response, while aldosterone regulates blood pressure. Androgens, on the other hand, contribute to growth, puberty, and reproduction. People with CAH make too little cortisol and aldosterone, while producing too many androgens. These hormone imbalances can cause health issues throughout life for people with CAH.
what causes cah
CAH is a genetic disorder, meaning it is inherited. To be born with CAH, both of your parents must pass along the gene that causes it. If you only inherit the gene from one parent, you will be a carrier for CAH but won’t have any symptoms. Both men and women are equally affected by CAH.
People with CAH have very little, if any, 21‑hydroxylase (21‑OH), which the body needs to convert cholesterol into cortisol and aldosterone. Without 21-OH, the building blocks for cortisol and aldosterone, like progesterone and 17‐hydroxyprogesterone (17-OHP), pile up and instead are used to make androgens. As a result, androgens are overproduced.
17-OHP=17-hydroxyprogesterone; 21-OH=21-hydroxylase; A4=androstenedione.
Because 17-OHP and A4 build up in people whose bodies can’t make cortisol and aldosterone, their levels are often monitored to check how well androgens are controlled. Your doctor may also check your cortisol levels as part of your lab work.
types of cah
There are 2 types of CAH: classic and non-classic. Here, we will be focusing on classic CAH, which can be divided into 2 subtypes: salt wasting and simple virilizing. Salt-wasting CAH is more common and more severe because when both cortisol and aldosterone production are low, it can lead to sodium loss. It can be fatal if not diagnosed and treated early.
The other form of classic CAH is simple virilizing CAH. People with this type of CAH have normal aldosterone levels but low cortisol levels.
One characteristic that all people with CAH (non-classic and either type of classic CAH) have in common is elevated levels of androgens.
diagnosing cah
CAH is usually detected at birth via newborn screening, a standard practice in the United States. If it is missed during the newborn screen, it can also be recognized in female babies based on the presence of gender-nonconforming genitalia. Or it can be diagnosed in babies showing other symptoms of CAH, including dehydration, fatigue, and failure to gain weight.
When CAH is not identified at birth, it can lead to adrenal crisis, a life-threatening condition caused by a lack of cortisol. In some cases, adrenal crisis leads to the diagnosis of CAH.
symptoms in children and adults
Children with CAH may experience rapid growth, early puberty, severe acne, and facial hair. In adolescents and adults, high androgen levels can cause excess hair, acne, short stature, irregular periods, and infertility.
Throughout life, people with CAH may experience social and mental health challenges including depression and anxiety. These difficulties may make it hard for someone with CAH to stay on their medicine.
CAH is a genetic disorder, meaning it is inherited. To be born with CAH, both of your parents must pass along the gene that causes it. If you only inherit the gene from one parent, you will be a carrier for CAH but won’t have any symptoms. Both men and women are equally affected by CAH.
People with CAH have very little, if any, 21‑hydroxylase (21‑OH), which the body needs to convert cholesterol into cortisol and aldosterone. Without 21-OH, the building blocks for cortisol and aldosterone, like progesterone and 17‑hydroxyprogesterone (17‑OHP), pile up and instead are used to make androgens. As a result, androgens are overproduced.
17-OHP=17-hydroxyprogesterone; 21-OH=21-hydroxylase; A4=androstenedione.
Because 17-OHP and A4 build up in people whose bodies can’t make cortisol and aldosterone, their levels are often monitored to check how well androgens are controlled. Your doctor may also check your cortisol levels as part of your lab work.
There are 2 types of CAH: classic and non‑classic. Here, we will be focusing on classic CAH, which can be divided into 2 subtypes: salt wasting and simple virilizing. Salt-wasting CAH is more common and more severe because when both cortisol and aldosterone production are low, it can lead to sodium loss. It can be fatal if not diagnosed and treated early.
The other form of classic CAH is simple virilizing CAH. People with this type of CAH have normal aldosterone levels but low cortisol levels.
One characteristic that all people with CAH (non-classic and either type of classic CAH) have in common is elevated levels of androgens.
CAH is usually detected at birth via newborn screening, a standard practice in the United States. If it is missed during the newborn screen, it can also be recognized in female babies based on the presence of gender-nonconforming genitalia. Or it can be diagnosed in babies showing other symptoms of CAH, including dehydration, fatigue, and failure to gain weight.
When CAH is not identified at birth, it can lead to adrenal crisis, a life-threatening condition caused by a lack of cortisol. In some cases, adrenal crisis leads to the diagnosis of CAH.
Children with CAH may experience rapid growth, early puberty, severe acne, and facial hair. In adolescents and adults, high androgen levels can cause excess hair, acne, short stature, irregular periods, and infertility.
Throughout life, people with CAH may experience social and mental health challenges including depression and anxiety. These difficulties may make it hard for someone with CAH to stay on their medicine.
treating cah
GLUCOCORTICOIDS (GCs)
GCs are a type of steroid hormone used to treat CAH. They can help make up for the lower levels of cortisol in people with CAH.
A lot has changed in the last 70 years, but CAH treatment hasn’t: remain the only treatment for both low cortisol and excess androgens. GCs effectively treat cortisol deficiency. However, to treat excess androgens, higher doses of GCs are needed. It’s important to have your doctor periodically check your hormone levels and reassess your treatment plan.
Treatment Challenges
Today, high doses of GCs are needed for people with CAH because there is still no way to directly manage androgen overproduction. But high doses of GCs come with drawbacks, including serious short-term and long-term side effects.
As always, your doctor is your best resource when it comes to CAH. Make sure you talk to them first if you’re looking to lower your GC dosage.
Is it a
Symptom or a Side effect?
Can you differentiate the symptoms of low cortisol from the symptoms of low androgen? Do you know the side effects of steroid treatment? If it’s all still a little—or a lot—unclear, watch below.
Approximate Length: 01:58
[Narrator VO] Is it a symptom or a steroid side effect?
[Parent VO] But my kid is too young for body hair… [SYMPTOM]
[Youth VO] I used to be the tallest in my class. [SYMPTOM]
[Youth VO] Now that I’m in high school, I’m one of the shortest? [SYMPTOM or SIDE EFFECT]
[Adult Female Patient VO] I want to have kids—but will I be able to? [SYMPTOM]
[Adult VO] I eat well, but still gain weight! [SIDE EFFECT]
[Adult VO] I have A+ dental hygiene, but I’ve lost some teeth! [SIDE EFFECT]
[Youth VO] I’m bigger and slower than my friends, [SIDE EFFECT]
[Youth VO] and it makes me sad and angry.
[Youth VO] I need high doses of steroids. But they cause all these other problems…
[Group VO] What the CAH?!
[Narrator VO] Life with congenital adrenal hyperplasia—CAH. Cortisol and androgen hormones regulate key functions like stress responses, metabolism, puberty, and reproductive health. Too little cortisol can make you feel tired and unwell, and may even lead to adrenal crisis. Too much androgen can cause early puberty, premature growth, and more. [DIABETES, INFERTILITY, EXCESS HAIR]
[Narrator VO] With these imbalances, it’s easy to see how CAH can really throw the body out of whack. But treatment using high-dose steroids can cause side effects like weight gain, diabetes, and bone density issues. [CARDIOVASCULAR PROBLEMS]
[Narrator VO] What’s tricky is that some of these side effects can be hard to detect or difficult to tell apart from the symptoms of CAH itself.
[Youth VO] So, what can I do?!
[Adult VO] And what can I do?
[Parent VO] Me too…
[Narrator VO] Well, you should talk to your doctor about what you’re experiencing and your treatment plan. Because new side effects or symptoms, or even new changes in life, might necessitate changes in your treatment.
[Adult VO] My health and priorities have changed as I’ve gotten older. [INFERTILITY, CARDIOVASCULAR DISEASE]
[Adult VO] And the last thing I want is another *bleep* moment! [WHAT THE CAH?!]
[Narrator VO] Don’t let complacency set in. Have an honest conversation with your doctor—even if it’s hard—and ask whether there are steps you can take to better manage CAH.
Are the symptoms you or your child experience related to CAH or to treatment? Talk to your doctor to be sure!
What the C@H?! IRL
Can you relate to any of the WHAT THE C@H?! moments depicted below? If so, give it a like! The moment with the most likes will have a special feature on this site. So take a look and place your votes, then share to see if others have had the same frustrating experiences and have tips for handling them.
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LIKESWe moved and it took 2 years to find an endocrinologist who treats CAH. What the CAH?! How did you find an endocrinologist that’s the right fit for you or your child?
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X LIKESMy daughter’s lab values came back normal. She feels anything but. WHAT THE C@H?! How have you worked with your endocrinologist to make lab values a useful tool in managing CAH?
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LIKESI feel like I have a degree in endocrinology just managing this condition. WHAT THE C@H?! What books or literature do you find most useful for managing CAH?
Hey, Let’s get to Know each other
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